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Acute-Onset Optic Neuropathy in Wilson's Disease
Liyung Tiffany Chou1, Derek Horkey1, Mark Slabaugh1
1OSU Havener Eye Institute, Department of Ophthalmology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Case Reports in Ophthalmology
|January 29, 2019
Summary
Wilson's disease (WD), a rare genetic disorder causing copper buildup, can lead to severe liver issues and, rarely, vision loss. This case highlights WD as a cause of acute liver failure and monocular vision impairment in a young woman.
Area of Science:
- Hepatology
- Ophthalmology
- Genetics
Background:
- Wilson's disease (hepatolenticular degeneration) is an inherited disorder of copper metabolism.
- It typically presents with hepatic, neurologic, psychiatric, or ocular symptoms due to excess copper accumulation.
- While ocular signs like Kayser-Fleischer rings are common, significant visual impairment is rare.
Observation:
- A 20-year-old female presented with acute liver failure.
- She also experienced sudden monocular vision loss.
- Ocular examination revealed findings consistent with Wilson's disease.
Findings:
- The patient was diagnosed with Wilson's disease.
- The disease was identified as the underlying cause of both her acute liver failure and decreased vision.
- This case underscores the potential for severe, atypical presentations of WD.
Implications:
- This case expands the known spectrum of Wilson's disease manifestations.
- It emphasizes the importance of considering WD in young patients with unexplained liver failure and visual disturbances.
- Early diagnosis and treatment of WD are crucial to prevent irreversible organ damage.